Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1050828
rs1050828
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2013
dbSNP: rs762516
rs762516
4 X 154536448 intron variant C/T snv 4.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.800 1.000 7 2010 2019
dbSNP: rs2413450
rs2413450
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 3 2012 2017
dbSNP: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.800 1.000 3 2010 2019
dbSNP: rs228918
rs228918
3 22 37110640 upstream gene variant T/C snv 0.40 0.800 1.000 2 2012 2016
dbSNP: rs1029298
rs1029298
1 22 32491795 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1029299
rs1029299
1 22 32491962 non coding transcript exon variant T/C snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs1029302
rs1029302
1 22 32492635 non coding transcript exon variant A/G snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs1033407
rs1033407
1 22 32480660 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11089637
rs11089637
2 1.000 0.120 22 21624807 downstream gene variant T/C snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs11089823
rs11089823
4 22 37113139 upstream gene variant T/C snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs11089824
rs11089824
4 22 37113146 upstream gene variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11913810
rs11913810
1 22 37051006 upstream gene variant G/C snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs11914132
rs11914132
3 22 37113047 upstream gene variant C/T snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs12148
rs12148
2 22 50523779 synonymous variant T/A;G snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs12628330
rs12628330
1 22 37002601 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs128941
rs128941
1 22 50505734 synonymous variant G/A snv 0.61 0.54 0.700 1.000 1 2012 2012
dbSNP: rs13055107
rs13055107
1 22 37073781 intron variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs13056243
rs13056243
1 22 28953318 intron variant C/T snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs130596
rs130596
2 22 37006778 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs130598
rs130598
TST
1 22 37012094 intron variant T/C snv 0.62 0.700 1.000 1 2012 2012
dbSNP: rs130599
rs130599
TST
1 22 37012678 intron variant T/C snv 0.62 0.700 1.000 1 2012 2012
dbSNP: rs130607
rs130607
TST
1 22 37014926 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs130618
rs130618
2 22 37039403 downstream gene variant T/A snv 0.50 0.700 1.000 1 2012 2012